ClinVar Miner

List of variants reported as benign for Omenn syndrome

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 54
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000448.3(RAG1):c.*3184G>A rs1056403 0.48229
NM_000448.3(RAG1):c.746A>G (p.His249Arg) rs3740955 0.48211
NM_000536.4(RAG2):c.*328A>G rs10836573 0.48132
NM_001033855.3(DCLRE1C):c.643C>T (p.Leu215=) rs7076862 0.42876
NM_001033855.3(DCLRE1C):c.780+10C>T rs35927251 0.17583
NM_001033855.3(DCLRE1C):c.728A>G (p.His243Arg) rs12768894 0.14770
NM_000448.3(RAG1):c.2459A>G (p.Lys820Arg) rs2227973 0.12928
NM_138787.4(IFTAP):c.-24+3619A>G rs73455545 0.10925
NM_001033855.3(DCLRE1C):c.512C>G (p.Pro171Arg) rs35441642 0.09351
NM_001193424.2(SUV39H2):c.850-305C>T rs60006238 0.08419
NM_000448.3(RAG1):c.*2246T>C rs4151045 0.07666
NM_000448.3(RAG1):c.2880A>G (p.Ala960=) rs1980131 0.07643
NM_000448.3(RAG1):c.-65A>G rs872053 0.07575
NM_000536.4(RAG2):c.878A>G (p.Glu293Gly) rs16929093 0.03307
NM_000536.4(RAG2):c.*183C>A rs12280564 0.03300
NM_000536.4(RAG2):c.*144G>T rs12280515 0.03006
NM_000448.3(RAG1):c.*2530G>T rs4151047 0.02426
NM_000448.3(RAG1):c.906C>A (p.Asp302Glu) rs4151030 0.02153
NM_001033855.3(DCLRE1C):c.*1287T>C rs41300698 0.02114
NM_000536.4(RAG2):c.741G>A (p.Val247=) rs34092949 0.01926
NM_000448.3(RAG1):c.303G>A (p.Ala101=) rs4151025 0.01561
NM_000448.3(RAG1):c.*589G>A rs4151038 0.01403
NM_000448.3(RAG1):c.*398G>A rs4151036 0.01396
NM_000448.3(RAG1):c.2638G>A (p.Glu880Lys) rs4151033 0.01395
NM_001033855.3(DCLRE1C):c.*975G>A rs116007944 0.01257
NM_000448.3(RAG1):c.*1978C>T rs4151044 0.01228
NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys) rs41298896 0.01123
NM_000536.4(RAG2):c.1158C>A (p.Phe386Leu) rs34629171 0.01070
NM_001033855.3(DCLRE1C):c.*1125T>C rs41300692 0.01017
NM_001033855.3(DCLRE1C):c.*848A>G rs41300684 0.01016
NM_001033855.3(DCLRE1C):c.*1339G>C rs41300700 0.01003
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018 0.00964
NM_001033855.3(DCLRE1C):c.227G>C (p.Arg76Thr) rs41296438 0.00869
NM_001033855.3(DCLRE1C):c.*752T>C rs41300682 0.00758
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=) rs41300676 0.00441
NM_000536.4(RAG2):c.22G>A (p.Val8Ile) rs150762709 0.00313
NM_001033855.3(DCLRE1C):c.*792A>C rs191042274 0.00283
NM_001033855.3(DCLRE1C):c.1503T>C (p.Asp501=) rs41300670 0.00272
NM_001033855.3(DCLRE1C):c.2001A>G (p.Leu667=) rs61749163 0.00231
NM_000448.3(RAG1):c.725A>G (p.Gln242Arg) rs76897604 0.00164
NM_000536.4(RAG2):c.1504A>G (p.Met502Val) rs145614809 0.00149
NM_000536.4(RAG2):c.1095T>C (p.Ser365=) rs140519815 0.00139
NM_000448.3(RAG1):c.*1366A>G rs371127461 0.00130
NM_000448.3(RAG1):c.*2599A>C rs375155856 0.00130
NM_000448.3(RAG1):c.*2654A>G rs369536926 0.00130
NM_000448.3(RAG1):c.577G>A (p.Glu193Lys) rs34841221 0.00130
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile) rs35691292 0.00032
NM_000448.3(RAG1):c.*1178G>A rs149724031 0.00013
NM_000536.4(RAG2):c.1074G>A (p.Glu358=) rs557047531 0.00001
NM_001033855.3(DCLRE1C):c.1587A>C (p.Ser529=) rs529177486 0.00001
NM_000448.3(RAG1):c.*1083C>T rs4151040
NM_000536.4(RAG2):c.948A>G (p.Ile316Met) rs545910812
NM_001033855.3(DCLRE1C):c.*1390T>C rs12245956
NM_001033855.3(DCLRE1C):c.*550del rs60410513

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.